 |
 |
- Aneusomy
AUTOSOMAL -
| case no. new |
case no. old |
gender/ age at diagnosis |
studied material |
de novo/ inherited |
GTG-banding result grade of mosaicism |
final result of the sSMC |
test methods |
clinical symptoms |
Reference |
| +13- 22- 1 |
22- U- 54 |
male/ prenatal |
AF | n.a. | 48,XY,+13,+mar[100%] | min(22)(:p11.?2→q11.1:) | cenM; subcenM | prenatally detected; TOP | {0} provided from Germany |
| case no. new |
case no. old |
gender/ age at diagnosis |
studied material |
de novo/ inherited |
GTG-banding
result grade of mosaicism |
final result of the sSMC |
test methods |
clinical symptoms |
Reference |
| +18- 14/22- 1 |
14/22- U- 23 |
male/ 1y |
PBL | n.a. | 48,XY,+18,+mar[10]/ 47,XY,+mar[20] |
inv dup(14 or 22)(q10) | different FISH probes | Edwards syndrome |
{0} |
| +18- 15- 1 |
15- U- 164 |
male/ newborn |
PBL | de novo | 48,XY,+18,+inv dup(15)[100%] | inv dup(15) | n.a. | Edwards syndrome |
{265} |
Such cases are here collected.
Frequency of sSMC plus trisomy 21 among Down syndrome patients (according to {6}): 3 of 25,817 cases with Down syndrome;
the same paper concludes, that there is no increased risk of trisomy (21) in carriers of sSMC.
Cases without sSMC but with Down syndrome (47,+21) from parents with SMC (47,+mar)
Described in Refs: {9, 18, 19, 20, 21, 22}
| sSMC
in Down syndrome |
||||||||
| sSMC 1 |
sSMC 2 |
sSMC 3 |
sSMC 4 |
sSMC 5 |
sSMC (1)/5/19 |
sSMC 6 |
sSMC 7 |
sSMC 8 |
| sSMC 9 |
sSMC 10 |
sSMC 11 |
sSMC 12 |
sSMC 13 |
sSMC 13/21 |
sSMC 14 |
sSMC 14/22 |
sSMC 15 |
| sSMC 16 |
sSMC 17 |
sSMC 18 |
sSMC 19 |
sSMC 20 |
sSMC 21 |
sSMC 22 |
sSMC X |
sSMC Y |
| sSMC acro |
sSMC non-acro |
sSMC multiple |
|
|
sSMC unclear |
|
sSMC McCl |
sSMC Ps-McCl |
| case no.
new |
case no.
old |
gender/ age at diagnosis |
studied material |
de novo/ inherited |
GTG-banding result grade of mosaicism |
final result
of the sSMC |
test methods |
clinical
symptoms |
Reference |
| +21- 00- 1 to 3 |
+21- U- 3 to 5 |
n.a./ n.a. |
n.a. | n.a. | 48,+21,+mar | n.a. | n.a. | Down syndrome | {8} original literature not available |
| +21- 00- 4 |
+21- U- 12 |
female/ 1m |
PBL | n.a. | 48,+21,+mar[?] | n.a. | n.a. | Down syndrome | {13} case 4 |
| +21- 00- 5 |
+21- U- 13 |
n.a./ 1m |
PBL | n.a. | 48,+21,+mar[?] | n.a. | n.a. | Down syndrome | {14} original literature presently not available |
| +21- 00- 6 |
+21- U- 14 |
n.a./ 1m |
PBL | n.a. | 48,+21,+mar[?] | n.a. | n.a. | Down syndrome | {15} original literature presently not available |
| +21- 00- 7 |
+21- U- 15 |
n.a./ 1m |
PBL | n.a. | 48,+21,+mar[?] | n.a. | n.a. | Down syndrome | {16} original literature not available |
| +21- 00- 8 |
+21- U- 16 |
female/ 1m |
PBL | mat | 48,XX,+21,+mar[?] | n.a. | n.a. | Down syndrome | {17} |
| +21- 00- 9 |
+21- U- 17 |
n.a./ 1m |
PBL | n.a. | 48,+21,+mar[?] | n.a. | n.a. | Down syndrome | {18} original literature not available |
| +21- 00- 10 |
+21- U- 18 |
n.a./ 1m |
PBL | n.a. | 48,+21,+mar[?] | n.a. | n.a. | Down syndrome | {19} original literature not available |
| +21- 00- 11 |
+21- U- 19 |
n.a./ 1m |
PBL | n.a. | 48,+21,+mar[?] | n.a. | n.a. | Down syndrome | {20} original literature not available |
| +21- 00- 12 |
+21- U- 20 |
male/ prenatal |
AF | mat | 48,XY,+21,+mar[?] | n.a. | n.a. | Down
syndrome TOP |
{21} case 2 |
| +21- 00- 13 |
+21- U- 25 |
n.a./ 1w |
PBL | familial | 48,+21,+mar[?] | n.a. | n.a. | Down syndrome | {27} |
| +21- 00- 14 |
+21- U- 26 |
male/ postnatal |
PBL | familial | 48,XY,+21,+mar[?] | n.a. | n.a. | Down syndrome | {28} |
| +21- 00- 15 |
+21- U- 27 |
male/ postnatal |
n.a. | n.a. | 48,XY,+21,+mar[?] | n.a. | n.a. | Down syndrome | {29} |
| +21- 00- 16 |
+21- U- 33 |
female/ 7m |
PBL | de novo | 48,XX,+21,+mar | n.a. | n.a. |
Down syndrome | {30} |
| +21- 00- 17 |
+21- U- 42 |
male/ newborn |
PBL | familial | 48,XY,+21,+mar | n.a. | aCGH | Down syndrome | {36} case 1 |
| +21- acro- 1 |
+21- U- 6 |
male/ 1m |
PBL | de novo | 48,XY,+21,+mar (bisatellited)[?] | n.a. | n.a. | Down syndrome | {7} case 6 |
| +21- acro- 2 |
+21- U- 7 |
female/ 1m |
PBL | de novo | 48,XX,+21,+mar (bisatellited)[?] | n.a. | n.a. | Down syndrome | {7} case 7 |
| +21- acro- 3 |
+21- U- 8 |
female/ 1m |
PBL | de novo | 48,XX,+21,+mar (bisatellited)[?] | n.a. | n.a. | Down syndrome | {9} |
| +21- acro- 4 |
+21- U- 9 |
male/ 1m |
PBL | de novo | 48,XY,+21,+mar (bisatellited)[?] | n.a. | n.a. | Down syndrome | {10} |
| +21- acro- 5 |
+21- U- 10 |
female/ 1m |
PBL | de novo | 48,XX,+21,+mar (bisatellited)[?] | n.a. | n.a. | Down syndrome | {11} |
| +21- acro- 6 |
+21- U- 11 |
female/ 1m |
PBL | de novo | 48,XX,+21,+mar (bisatellited)[?] | n.a. | n.a. | Down syndrome | {12} |
| +21- acro- 7 |
+21- U- 47 |
male/ 1m |
PBL | n.a. | 48,XY,+21,+mar[40%]/ 47,XY,+21[60%] |
inv dup (acro)(p10) | acrocenM | Down syndrome | {0}
provided from Germany |
| +21- 02- 1 |
n.a. | female/ prenatal |
fibroblasts | ?pat 3/200 cells |
48,XX,+21,+mar[25]/ 47,XX,+21[5] |
min(2)(:p11.1→q11.2:) |
cenM subcenM |
Down
syndrome TOP |
{0}
provided from Germany |
| +21- 04- 1 |
+21- U- 1 |
male/ 1m |
PBL | de novo | 48,XY,+21,+mar[28]/ 47,XY,+21[7] |
min(4)(:p12→q11:) partial maternal iso-UPD 4p16 |
cenM subcenM; UPD-test |
Down syndrome | {1} case
10 {2} |
| +21- 07- 1 |
+21- U- 28 |
male/ postnatal |
PBL (EKF- cellbank) |
n.a. | 47,XY,+21/47,XY,+mar/ ?48,XY,+21,+mar/? 46,XY; mar in 50% of the cells |
min(7)(:p11.1→ q11.21:)[10]/ r(7)(::p11.1→ q11.21::)[1x]/ min(7)(:q11.21-p11.1: :p11.1→q11.21:)[9] |
cenM subcenM |
Down syndrome | {0} provided from Germany |
| +21- 13- 1 |
+21- U- 32 |
male/ adult |
PBL | n.a. | 48,XY,+21,+mar[1]/ 47,XY,+21[29] |
r(13)(::p1?2→q1?3::)[1]/ der(13)(pter→q?12.11: :p11.1→q1?3: :q11.1→p1?1.2:)[2] |
cenM, subcenM | Down syndrome | {32} |
| +21- 13- 2 |
+21- U- 48 |
male/ adult |
PBL | n.a. | 48,XY,+21,+mar[1]/ 47,XY,+21[29] | r(13)(::p1?2→q1?3::)[1]/ der(13)(pter→q?12.11: :p11.1→q1?3: :q11.1→p1?1.2:)[2] |
cenM, subcenM | Down syndrome | {0} provided from Croatia |
| +21- 13/21- 1 |
U- 29 |
female/ postnatal |
PBL | familial | 48,XX,+21,+mar[100%] | inv
dup(13)(q11) or inv dup (21)(q11.1) |
M-FISH; cenM subcen |
Down syndrome | {0} provided from Spain |
| +21- 13/21- 2 |
+21- U- 38 |
female/ postnatal |
PBL (EKF- cellbank) |
pat | 48,XY,+21,+mar[100%] | inv dup(13or 21)(q10) | cenM, subcenM | Down syndrome | {0} |
| +21- 13/21/18 1 |
+21- U- 35 |
male/ 7y |
PBL | de novo | 48,XY,+21,+mar[100%] | der(13
or 21)t(13 or 21;18)(13 or 21pter→13q11 or
21q11.1: :18p11.21→18p11.32) |
M-FISH, subcenM | Down syndrome | {37} |
| +21- 14- 1 |
+21- U- 22 |
female/ 1m |
PBL | de novo | 48,XX,+21,+mar[45%]/ 47,XX,+21[55%] |
r(14) negative for D22Z4 and positive for D14/22Z1 |
FISH with all available centromeric probes | Down syndrome | {23} case 7 |
| +21- 14- 2 |
+21- U- 36 |
male/ 2m |
PBL | mat | 46,XY,der(14;21)(q10;q10),+mar[100%] | min(14)(:p11→q11:) | centromeric probes | Down syndrome | {31} |
| +21- 14- 3 |
+21- U- 40 |
male/ newborn |
PBL | mat for mother see 14-O-q11/2-1 |
47,XY,rob(13;21)(q10;q10),+21,+mar* | min(14)(:p11→q11:) | cep probes | Down syndrome | {34} |
| +21- 14- 4 |
- | male/ prenatal |
AF | mat | 48,XY,+21,+mar | inv dup(14)(q11.1) | ceps | Down syndrome | {0} provided from Germany |
| +21- 14/22- 1 |
+21- U- 23 |
female/ prenatal |
AF | n.a. | 48,XX,+21,+r[60%]/ 47,XX,+21[40%] |
r(14
or 22) ring present in 80% of lung tissue |
FISH with all available centromeric probes | AMA, TOP, Down syndrome | {24;25} case 23 |
| +21- 14/22- 2 |
+21- U- 24 |
female/ 1w |
PBL | maternal due to a karyotype 46,XX,t(14;21) (q11.1;p11.1)* |
47,XX,t(14;21) (q11.1;p11.1),+21 sSMC is here the der(14)t(14;21) (q11.1;p11.1) |
n.a. | n.a. | Down syndrome | {26} |
| +21- 14/22- 3 |
+21- U- 34 |
female/ 2y |
PBL | de novo | 47,XX,der(14)t(14,21), +mar[100%] |
47,XX,t(14;21) (q11.1;p11.2),+21 |
cenM, subcenM | Down syndrome | {33} case P-8, {38} |
| +21- 15- 1 |
+21- U- 2 |
female/ at birth |
PBL | mat | 47,XX,-14,+t(14;21) (p11;p11),+mar[?] |
inv dup(15)(q11.2 or q12) | radioactive ISH with pML34 | Down syndrome | {3; 4; 5} |
| +21- 15- 2 |
+21- U- 2a |
male/ 1m |
PBL | de novo | 48,XY,+21,+mar[22] | inv dup(15)(q10) | cenM; subcenM |
Down syndrome | {1} case 23 |
| +21- 15- 3 |
+21- U- 44 |
male/ prenatal |
CVS | de novo | 48,X,+21,+mar[100%] | inv
dup(15)(q12) (excl. SNRPN); aCGH: pter-46.95 |
cep, SNRPN; aCGH | Down syndrome | {39} case CVS-2 |
| +21- 15- 4 |
+21- U- 46 |
female/ prenatal |
AF | n.a. | 48,XX,+21,+mar[7]/ 47,XX,+21[23] and UPD(15)mat |
min(15)(q11.1)
|
cenM subcenM |
Down
syndrome; PWS |
{0} provided from Germany |
| +21- 15- 5 |
sib
of 15-O- q11.1/1-21 |
n.a./ prenatal |
AF | n.a. | 48,XX,+21,+mar[?mos] | inv dup(15)(q11.1) | n.a. | Down syndrome | {0} provided from Germany |
| +21- 15- 6 |
sib
of 15-O- q11.2/1-18 |
female/ prenatal |
AF | n.a. | 48,XX,+21,+mar[?mos] | inv dup(15)(q11.2) | acrocenM; subcenM | Down
syndrome; PWS |
{0} provided from Germany |
| +21- 15- 7 |
15- U- 2 |
female/ at birth |
PBL | maternal | 47,XX,-14,+t(14;21)(p11;p11),+mar[?] | inv dup(15)(q11.2 or q12) | radioactive ISH with pML34 | Down syndrome | {42-44} |
| +21- 15- 8 |
see McCl-15-N-q11.1/2-1 | ||||||||
| +21- 16- 1 |
+21- U- 37 |
male/ prenatal |
AF | n.a. | 48,XY,+21,+r(16)(p11.2q11.2)[11]/47,XY,+21[19] | mar(16)(:p11.2→q11.2:) array: 31.65-45.07 MB |
aCGH | Down syndrome | {0} provided from USA |
| +21- 21- 1 |
+21- U- 41 |
male/ 4m |
PBL | n.a. | 47,XY,t(4;19)(p16.3;p13.2),inv dup(21)(q10),+inv dup(21)(p10) | inv dup(21)(p10) | SKY, subcenM | Down syndrome | {0} provided from Hungary |
| +21- 21- 2 |
+21- U- 45a |
male/ postnatal |
PBL | n.a. | 47,XY,der(21;21)(q10;q10),+21,+mar[100%] | der(21;21)(p11.1;p11.1) | subcenM | Down syndrome | {0} provided from Poland |
| +21- 21- 3 |
+21- U- 45b |
male/ postnatal |
PBL | n.a. | 47,XY,der(21;21)(q10;q10),+21,+mar[100%] | der(21;21)(p11.1;p11.1) | subcenM | Down syndrome | {0} provided from Serbia |
| +21- 21- 4 |
+21- U- 45c |
male/ prenatal |
AF | n.a. | 47,XY,der(21;21)(q10;q10),+21,+mar[100%] | der(21;21)(p11.1;p11.1) | FISH | Down syndrome | {0} provided from Serbia |
| +21- 22- 1 |
+21- U- 30 |
male/ 1m |
PBL | n.a. | 48,XY,+21,+mar[90%]/ 47,XY,+21[10%] |
min(22)(pter→q11.22:) | cenM, subcenM; CES-specific probes | normal pregnancy, born by sectio cesaraea; Down syndrome with AVSD and Morbus Hirschsprung | {0} provided from Germany |
| +21- 22- 2 |
+21- U- 31 |
female/ 1m |
PBL | de novo | 48,XY,+21,+mar[10]/ 47,XY,+21[30] |
inv dup(22)(q11.1) | cenM, subcenM | Down syndrome | {0} provided from Germany |
| +21- 22- 3 |
+21- U- 39 |
male/ prenatal |
fibroblasts | n.a. | 48,XY,+21,+mar[11]/ 47,XY,+21[4] |
min(22)(pter→q11.21) | cenM, subcenM | Spontaneous abortion - maybe due to combination of trisomy 21 and sSMC | {35} case 26 |
| +21- 0X- 1 |
minX- p11.1/ 1-1 |
female/ postnatal |
PBL | n.a. | 46,X,+21,+mar[67%]/ 45,X[33%] |
min(X)(:p11.1→q11.1:) | n.a. | Down syndrome | {45} case 6 |
| +21- 0Y- 1 |
+21- U- 43 |
n.a./ prenatal |
AF | n.a. | 47,X,+21,+mar[15]/ 46,X,+21[2] |
min(Y)(pter→q11.1) | subcenM | Down syndrome | {0} provided from Poland |
| +21- 0Y- 2 |
- | n.a./ n.a. |
PBL? | de novo | 46,X,+mar[30]/ 47,XY,+21[20] |
min(Y)(:p11.2→q11.221:) | n.a. | Down syndrome | {41} |
| case no. new |
case no. old |
gender/ age at diagnosis |
studied material |
de novo/ inherited |
GTG-banding
result grade of mosaicism |
final result of the sSMC |
test methods |
clinical symptoms |
Reference |
| +15- 13/21- 1 |
13/21- U- 34 |
female/ prenatal |
CH | n.a. | 48,XX,+15,+mar[100%] | inv dup(13)(q11) or inv dup (21)(q11.1) | cenM; subcenM | miscarriage in week 10 | {0} provided from Greece |
| case no. new |
case no. old |
gender/ age at diagnosis |
studied material |
de novo/ inherited |
GTG-banding
result grade of mosaicism |
final result of the sSMC |
test methods |
clinical symptoms |
Reference |
|
+ +- 1 |
- |
- |
- |
- |
- |
- | - |
- |
- |